hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Medical Definition
An autosomal recessive disorder caused by mutation(s) in the slc25a15 gene, encoding mitochondrial ornithine transporter 1. the condition is characterized by failure to thrive, liver dysfunction, psychomotor retardation, encephalopathy and seizures.
Related Codes (1)
Rows per page
Page 1 of 1